Genopathy
Gene-Disorder Association · Article
Gene
TP53
Tumor Protein P53
Disorder
Rhabdomyosarcoma 2
First reported 1950
Supporting publications 1
Key publication · disorder Capillary circulation in human arms studied by venous congestion. A cutaneo-muscular vasomotor reflex.Journal of applied physiology · 1950
Manually curated
Association Review

In brief

The association between TP53 (Tumor Protein P53) and Rhabdomyosarcoma 2 is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 1
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
TP53

The gene

3 source summaries

A gene summary alongside the source descriptions it was distilled from.

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04
Rhabdomyosarcoma 2

The disorder

13 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

1 clinical feature

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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07
Provenance

References & sources

7 references

Every source and publication cited across this dossier, as one numbered reference list.

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